Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000177761 | SCV000169147 | benign | not specified | 2013-05-03 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV000163262 | SCV000213790 | likely benign | Hereditary cancer-predisposing syndrome | 2014-08-11 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000177761 | SCV000229689 | likely benign | not specified | 2014-08-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000203676 | SCV000262304 | benign | Tuberous sclerosis 2 | 2018-01-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000177761 | SCV000305216 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000042548 | SCV000395649 | likely benign | Tuberous sclerosis syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000590662 | SCV000697469 | benign | not provided | 2016-08-23 | criteria provided, single submitter | clinical testing | Variant summary: The c.4269G>A (p.Leu1423=) in TSC2 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.0023 (305/99578 chrs tested), including 2 homozygous occurrences. This frequency exceeds the estimated maximum allele frequency for a pathogenic allele in this gene (0.0000068). The variant of interest has been cited as Benign/Likely Benign by multiple reputable databases/clinical laboratories. Taking together, based on the prevalence of this variant in general population the variant was classified as Benign. |
Laboratory for Molecular Medicine, |
RCV000177761 | SCV000711365 | benign | not specified | 2017-09-22 | criteria provided, single submitter | clinical testing | p.Leu1423Leu in exon 34 of TSC2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.2% (737/265766) of chromosomes, including 4 homozygotes) and the highest allele frequency of 0 .5% in Ashkenazi Jewish by the Genome Aggregation Database (gnomAD, http://gnoma d.broadinstitute.org; dbSNP rs45438898) |
Tuberous sclerosis database |
RCV000042548 | SCV000066342 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |